Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064793921
rs1064793921
PTCH1
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 3 2006 2014
dbSNP: rs1064793921
rs1064793921
PTCH1
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014